Nelson - Human Genetics Flashcards

Decks in this Class (15):

• Down Syndrome And Other Abnormalities Of

  Down Syndrome and Other Abnormalities of Chromosome Number

  Sample Cards:

  abnormal cells that do not contain a mul,

  most common and clinically significant t,

  mc cause of aneuploidy
  26 Cards
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• Sex Chromosome Aneuploidy

  Sex Chromosome Aneuploidy

  Sample Cards:

  considered together are the mc chromosom,

  45 x,

  47 xxy
  22 Cards
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• Autosomal Dominant And Recessive Disease

  Autosomal Dominant and Recessive Diseases

  Sample Cards:

  autosomal dominant vs recessive achondro,

  autosomal dominant vs recessive thanatop,

  autosomal dominant vs recessive cah
  29 Cards
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• X Linked Recessive Diseases

  X-linked Recessive Diseases

  Sample Cards:

  x linked recessive diseases,

  t f re x linked recessive diseases incid,

  t f re x linked recessive diseases femal
  8 Cards
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• Approach To Iems

  Approach to IEMs

  Sample Cards:

  t f re genetic disorders of metab affect,

  t f re genetic disorders of metab majori
  2 Cards
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• Msud

  MSUD
  0 Cards
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• Galactosemia

  Galactosemia
  0 Cards
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• Mucopolysaccharidoses

  Mucopolysaccharidoses
  0 Cards
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• Disorders Of Purine And Pyrimidine Metab

  Disorders of Purine and Pyrimidine Metabolism
  0 Cards
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• Hypoglycemia

  Hypoglycemia
  0 Cards
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• Syndromes

  Syndromes

  Sample Cards:

  severe hypotonia at birth obesity short,

  hypotonia fair hair midface hypoplasia p,

  uncontrollable bouts of laughter severe
  4 Cards
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• Iem Urine Odor

  IEM Urine Odor

  Sample Cards:

  sweaty feet acrid,

  swimming pool,

  boiled cabbage
  8 Cards
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• Genetic Metabolic Disorders

  Genetic Metabolic Disorders

  Sample Cards:

  6 carbohydrate disorders,

  deficiency fructose intolerance,

  deficiency lactose intolerance
  16 Cards
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• Sphingolipidosis

  Sphingolipidosis

  Sample Cards:

  x linked recessive,

  reddish purple rash kidney failure heart,

  build up of ceramide trihexoside
  21 Cards
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• Glycogen Storage Diseases

  Glycogen Storage Diseases

  Sample Cards:

  type i,

  type ii,

  type iii
  23 Cards
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